Successful prenatal exclusion of an unspecified subtype of severe epidermolysis bullosa

In most cases of prenatal diagnosis of epidermolysis bullosa (EB), the subtype of severe EB from which the fetus is at risk is identified by studying the specimens of the proband. In this study, the parents of a child with an unspecified subtype of severe EB sought prenatal diagnosis for their second and third pregnancies.

The firstborn of a couple (the proband) suffered generalized blistering and erosions of the skin present from delivery, and died on the 11th postnatal day of severe EB of an unspecified type. The only diagnostic specimen available from the first infant was a conventionally stained skin section for light microscopy that showed the dermo-epidermal separation. For prenatal diagnosis in the second and third pregnancies, fetal skin biopsies were performed at 19 weeks of gestation.

In both cases, fetal skin showed no ultrastructural abnormalities and no evidence of dermo-epidermal separation. Indirect immunofluorescence was positive for monoclonal antibodies against type VII collagen, laminin 5, uncein, alpha6 and beta4 integrins, BPAG2, and HD1/plectin, which are known to be reduced or absent in specific subsets of severe EB. The pregnancies were therefore continued, and normal healthy second and third children were delivered.

Fetal skin biopsy, together with a panel of newly developed monoclonal antibodies, provided reliable prenatal diagnosis in the present family in which preliminary information of the EB proband was limited.